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    GLIS3 GLIS family zinc finger 3 [ Homo sapiens (human) ]

    Gene ID: 169792, updated on 5-Aug-2022

    Summary

    Official Symbol
    GLIS3provided by HGNC
    Official Full Name
    GLIS family zinc finger 3provided by HGNC
    Primary source
    HGNC:HGNC:28510
    See related
    Ensembl:ENSG00000107249 MIM:610192; AllianceGenome:HGNC:28510
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDH; ZNF515
    Summary
    This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in thyroid (RPKM 8.8), gall bladder (RPKM 2.6) and 13 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GLIS3 in Genome Data Viewer
    Location:
    9p24.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (3824127..4490465, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (3828153..4304654, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (3824127..4300068, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RFX3 divergent transcript Neighboring gene uncharacterized LOC105375962 Neighboring gene GLIS3 antisense RNA 1 Neighboring gene uncharacterized LOC105375964 Neighboring gene uncharacterized LOC124902111 Neighboring gene GLIS3 intron CAGE-defined low expression enhancer Neighboring gene Sharpr-MPRA regulatory region 13837 Neighboring gene Sharpr-MPRA regulatory region 3194 Neighboring gene Sharpr-MPRA regulatory region 3538 Neighboring gene Sharpr-MPRA regulatory region 14111 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene solute carrier family 1 member 1 Neighboring gene spermatogenesis associated 6 like Neighboring gene ribosomal protein S6 pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neonatal diabetes mellitus with congenital hypothyroidism
    MedGen: C1857775 OMIM: 610199 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    EBI GWAS Catalog
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
    EBI GWAS Catalog
    GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ38999, FLJ90578, MGC33662

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    zinc finger protein GLIS3
    Names
    GLI-similar 3
    OK/KNS-cl.4
    zinc finger protein 515

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011782.2 RefSeqGene

      Range
      4968..480909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042413.2NP_001035878.1  zinc finger protein GLIS3 isoform a

      See identical proteins and their annotated locations for NP_001035878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA933816, AK075059, AL133283, AL137071, AL162419, BC033899, DQ438886
      Consensus CDS
      CCDS43784.1
      UniProtKB/Swiss-Prot
      Q8NEA6
      UniProtKB/TrEMBL
      Q1PHJ8
      Related
      ENSP00000371398.3, ENST00000381971.8
      Conserved Domains (2) summary
      COG5189
      Location:558652
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:569591
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_152629.4NP_689842.3  zinc finger protein GLIS3 isoform b

      See identical proteins and their annotated locations for NP_689842.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AA933816, AL133283, AL137071, BC033899
      Consensus CDS
      CCDS6451.1
      UniProtKB/Swiss-Prot
      Q1PHK5, Q8NEA6
      UniProtKB/TrEMBL
      A0A0S2Z689
      Related
      ENSP00000325494.10, ENST00000324333.14
      Conserved Domains (2) summary
      COG5189
      Location:403497
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:414436
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      3824127..4490465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422890.1XP_047278846.1  zinc finger protein GLIS3 isoform X2

    2. XM_011517763.3XP_011516065.1  zinc finger protein GLIS3 isoform X1

      See identical proteins and their annotated locations for XP_011516065.1

      UniProtKB/Swiss-Prot
      Q8NEA6
      Conserved Domains (2) summary
      COG5189
      Location:558652
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:569591
      ZF_C2H2; C2H2 Zn finger [structural motif]
    3. XM_005251386.5XP_005251443.1  zinc finger protein GLIS3 isoform X3

      See identical proteins and their annotated locations for XP_005251443.1

      UniProtKB/Swiss-Prot
      Q1PHK5, Q8NEA6
      UniProtKB/TrEMBL
      A0A0S2Z689
      Related
      ENSP00000507306.1, ENST00000682749.1
      Conserved Domains (2) summary
      COG5189
      Location:403497
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:414436
      ZF_C2H2; C2H2 Zn finger [structural motif]
    4. XM_011517764.3XP_011516066.1  zinc finger protein GLIS3 isoform X1

      See identical proteins and their annotated locations for XP_011516066.1

      UniProtKB/Swiss-Prot
      Q8NEA6
      Conserved Domains (2) summary
      COG5189
      Location:558652
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:569591
      ZF_C2H2; C2H2 Zn finger [structural motif]
    5. XM_047422889.1XP_047278845.1  zinc finger protein GLIS3 isoform X1

    6. XM_011517766.3XP_011516068.1  zinc finger protein GLIS3 isoform X3

      See identical proteins and their annotated locations for XP_011516068.1

      UniProtKB/Swiss-Prot
      Q1PHK5, Q8NEA6
      UniProtKB/TrEMBL
      A0A0S2Z689
      Conserved Domains (2) summary
      COG5189
      Location:403497
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:414436
      ZF_C2H2; C2H2 Zn finger [structural motif]
    7. XM_017014361.2XP_016869850.1  zinc finger protein GLIS3 isoform X3

      UniProtKB/Swiss-Prot
      Q1PHK5, Q8NEA6
      UniProtKB/TrEMBL
      A0A0S2Z689
      Conserved Domains (2) summary
      COG5189
      Location:403497
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:414436
      ZF_C2H2; C2H2 Zn finger [structural motif]
    8. XM_047422892.1XP_047278848.1  zinc finger protein GLIS3 isoform X5

    9. XM_047422891.1XP_047278847.1  zinc finger protein GLIS3 isoform X4

    10. XM_047422893.1XP_047278849.1  zinc finger protein GLIS3 isoform X6

    RNA

    1. XR_007061257.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      3828153..4304654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)